610356.G.5

Country

Saudi Arabia

HPO Terms

Cone/cone-rod dystrophy
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Sex

Unknown

Family History

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_133497.4:c.427G>T4+

Remarks

Family with unknown number of affected members

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
610356.G.1Saudi ArabiaCone/cone-rod dystrophy; Reduced visual acuity; Color vision defectGroup of 7 patients diagnosed either at birth or infancy
610356.G.2Saudi ArabiaCone dystrophyYesUnknown number of members from an Emirati family. (Designated as Family 9 in the publication)
610356.G.3Saudi ArabiaBlurred vision; Nyctalopia; Retinal dystrophy; Abnormal macular morphology; Abnormal electroretinogramYesGroup of 14 patients from 9 families
610356.G.4Saudi ArabiaRod-cone dystrophyUnknownYesFamily with unknown number of affected members
610356.G.6Saudi ArabiaCone/cone-rod dystrophyUnknownNoFamily with unknown number of affected members
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